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Biomedical subjects

E Gilbert-Barness

Publications and source records attributed to E Gilbert-Barness.

At least 19 recordsLinked to original sources
PubMed1995

Infantile progressive striato-thalamic degeneration in two siblings: a new syndrome.

The clinical features, neuroimaging, and neuropathologic findings of a new syndrome, characterized by onset in early infancy, progressive course, choreiform movements, hypotonia, and dysphagia, are described in 2 siblings originating from a consanguineous marriage. The serial neuroimaging studies indicated progressive loss of volume of both caudate nuclei and change in signal intensity in putamina. Pathologically, there was severe neuronal loss and gliosis in the striatum and thalamus. This pathologic pattern in association with clinical and radiologic correlates, to our knowledge, has not been previously described. It appears that this syndrome is an autosomal recessive disorder.

Child, Preschool↗
PubMed1995

Edith Potter.

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History, 20th Century↗
PubMed1993

Polyphenotypic small-cell orbitocranial tumor.

A male infant was born with a massive orbitocranial tumor without evidence of metastasis. On light microscopy, the histologic pattern of the tumor was that of a largely necrotic and highly undifferentiated small round cell neoplasm of uncertain origin. Ultrastructural features of the primitive cells included a rare tight junction and myofibril. Immunohistochemical studies showed positive staining for cytokeratin, vimentin, muscle-specific actin, neuron-specific enolase, and S100 protein and negativity for desmin and leukocyte common antigen. We believe this case represents an example of a polyphenotypic small-cell tumor of childhood with epithelial, rhabdomyoblastic, and neuroectodermal differentiation.

Humans↗
PubMed1993

Fetal hemoglobin and sudden infant death syndrome.

Chronic hypoxemia has been suggested as an unrecognized condition that may result in sudden infant death syndrome. Fetal hemoglobin has been shown to be increased in infants suffering from chronic hypoxemia. We examined fetal hemoglobin levels in 54 cases of sudden infant death syndrome, 17 infants dying of other causes, and 22 live, healthy control infants. Fetal hemoglobin in infants with sudden infant death syndrome was found to be elevated when compared with our control infants as well as when compared with literature-based normal values. These findings indicate that fetal hemoglobin measurements may be a valuable aid in identifying cases of sudden infant death syndrome at autopsy and supports the hypothesis that this group of victims of sudden infant death syndrome are not normal before death but have an underlying condition resulting in chronic hypoxemia.

Age Factors↗